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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099197copy number variation1nstd231human GRCh38.p12 chr1: 43,487,884-44,020,389 , GRCh37 chr1: 43,953,555-44,486,061 ATP6V0B, DPH2, 14 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv6650223copy number variation1nstd229human GRCh38 chr1: 43,490,601-43,889,800 , GRCh37.p13 chr1: 43,956,272-44,355,472 SHMT1P1, KDM4A-AS1, 5 more genes
    nsv6649713copy number variation1nstd229human GRCh38 chr1: 43,761,610-43,950,117 , GRCh37.p13 chr1: 44,227,281-44,415,789 ARTN, IPO13, 5 more genes
    nsv6636253copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,115,963-44,434,808 , GRCh38.p12 chr1: 43,650,292-43,969,136 KDM4A, DPH2, 9 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4681882copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr1: 43,792,082-43,899,747 , GRCh37 chr1: 44,257,753-44,365,419 SHMT1P1, ST3GAL3, 1 more genes
    nsv4461915mobile element insertion1nstd166human GRCh37.p13 chr1: 44,302,696-44,302,696 , GRCh38.p12 chr1: 43,837,024-43,837,024 MIR6079, ST3GAL3
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4048494copy number variation1nstd166human GRCh37.p13 chr1: 44,227,281-44,415,832 , GRCh38.p12 chr1: 43,761,610-43,950,160 SHMT1P1, ST3GAL3, 5 more genes
    nsv4037016copy number variation1nstd166human GRCh37.p13 chr1: 44,301,442-44,302,456 , GRCh38.p12 chr1: 43,835,770-43,836,784 MIR6079, ST3GAL3
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 KDM4A, RN7SL326P, 102 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 ERMAP, LOC100419796, 116 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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